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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


108 records found for search term Hcr
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8581999CV116451single nucleotide variantNM_001526.3(HCRTR2):c.-2076G>TLung cancer [RCV000096974]uncertain significance65517251255172512Humanname
15139865CV758907single nucleotide variantNM_001525.3(HCRTR1):c.965+10C>Tnot provided [RCV000921583]likely benign13162375931623759Humanname
8582000CV116452single nucleotide variantNM_001526.3(HCRTR2):c.223+24421T>CLung cancer [RCV000096975]uncertain significance65519923155199231Humanname
8582001CV116453single nucleotide variantNM_001526.3(HCRTR2):c.224-32928T>CLung cancer [RCV000096976]uncertain significance65521571155215711Humanname
405266276CV3201872single nucleotide variantNM_001524.1(HCRT):c.303A>T (p.Ala101=)HCRT-related disorder [RCV003911362]likely benign174218424742184247Humanname , trait , alternate_id
405267776CV3205688single nucleotide variantNM_001524.1(HCRT):c.203A>G (p.Lys68Arg)HCRT-related disorder [RCV003947406]likely benign174218434742184347Humanname , trait , alternate_id
405266607CV3211847microsatelliteNM_001524.1(HCRT):c.47TGC[8] (p.Leu22_Pro23insLeu)HCRT-related disorder [RCV003947128]likely benign174218448242184483Humanname , trait , alternate_id
405270995CV3218822single nucleotide variantNM_001524.1(HCRT):c.342C>G (p.Arg114=)HCRT-related disorder [RCV003971581]likely benign174218420842184208Humanname , trait , alternate_id
405276369CV3193391single nucleotide variantNM_001384272.1(HCRTR2):c.922A>G (p.Ile308Val)HCRTR2-related disorder [RCV003974558]benign65527753955277539Humanname , trait , alternate_id
405271987CV3203072single nucleotide variantNM_001384272.1(HCRTR2):c.444C>T (p.Ile148=)HCRTR2-related disorder [RCV003914122]benign65525517755255177Humanname , trait , alternate_id
405294193CV3203552single nucleotide variantNM_001384272.1(HCRTR2):c.30C>T (p.Pro10=)HCRTR2-related disorder [RCV003934076]likely benign65517461755174617Humanname , trait , alternate_id
405258162CV3208251single nucleotide variantNM_001384272.1(HCRTR2):c.28C>T (p.Pro10Ser)HCRTR2-related disorder [RCV003941685]likely benign65517461555174615Humanname , trait , alternate_id
405256131CV3208697single nucleotide variantNM_001384272.1(HCRTR2):c.213G>A (p.Gly71=)HCRTR2-related disorder [RCV003939756]likely benign65517480055174800Humanname , trait , alternate_id
405255777CV3210845single nucleotide variantNM_001384272.1(HCRTR2):c.577T>A (p.Cys193Ser)HCRTR2-related disorder [RCV003939351]likely benign65525531055255310Humanname , trait , alternate_id
15157843CV699626single nucleotide variantNM_001384272.1(HCRTR2):c.846G>A (p.Thr282=)HCRTR2-related disorder [RCV003925872]|not provided [RCV000946959]benign65527746355277463Humanname , trait , alternate_id
15187790CV722077single nucleotide variantNM_001384272.1(HCRTR2):c.1292C>A (p.Thr431Lys)HCRTR2-related disorder [RCV003920683]|not provided [RCV000887350]likely benign65528241155282411Humanname , trait , alternate_id
8559823CV22342single nucleotide variantNM_001524.1(HCRT):c.47T>G (p.Leu16Arg)Narcolepsy 1 [RCV000007726]pathogenic174218450342184503Human1name
401754324CV2727000single nucleotide variantNM_001524.1(HCRT):c.70C>T (p.Pro24Ser)not specified [RCV004325064]uncertain significance174218448042184480Humanname
598266191CV3971618single nucleotide variantNM_001524.1(HCRT):c.65T>C (p.Leu22Pro)not specified [RCV005349220]uncertain significance174218448542184485Humanname
156184735CV2251605single nucleotide variantNM_001524.1(HCRT):c.196C>A (p.Leu66Met)not specified [RCV004117838]uncertain significance174218435442184354Humanname
155959030CV2275721single nucleotide variantNM_001525.3(HCRTR1):c.11C>T (p.Ser4Leu)not specified [RCV004137330]uncertain significance13161920331619203Humanname
598246721CV3971616single nucleotide variantNM_001524.1(HCRT):c.262G>C (p.Gly88Arg)not specified [RCV005345200]uncertain significance174218428842184288Humanname
598266188CV3971617single nucleotide variantNM_001524.1(HCRT):c.134G>C (p.Cys45Ser)not specified [RCV005349219]uncertain significance174218441642184416Humanname
15107097CV707341single nucleotide variantNM_001525.3(HCRTR1):c.237A>G (p.Thr79=)not provided [RCV000960217]benign13161956931619569Humanname
15180684CV718910single nucleotide variantNM_001525.3(HCRTR1):c.210C>T (p.Ala70=)not provided [RCV000885586]benign13161954231619542Humanname
151352889CV1326245single nucleotide variantNM_001524.1(HCRT):c.367G>A (p.Val123Ile)not provided [RCV001815823]uncertain significance174218418342184183Humanname
156115277CV2349285single nucleotide variantNM_001524.1(HCRT):c.326C>T (p.Pro109Leu)not specified [RCV004199232]uncertain significance174218422442184224Humanname
156002474CV2399551single nucleotide variantNM_001524.1(HCRT):c.344G>A (p.Cys115Tyr)not specified [RCV004244077]uncertain significance174218420642184206Humanname
401773169CV2716477single nucleotide variantNM_001525.3(HCRTR1):c.33G>A (p.Met11Ile)not specified [RCV004325782]likely benign13161922531619225Humanname
401728697CV2729748single nucleotide variantNM_001524.1(HCRT):c.323G>A (p.Arg108His)not specified [RCV004332769]uncertain significance174218422742184227Humanname
405790152CV3266395single nucleotide variantNM_001524.1(HCRT):c.334G>T (p.Gly112Trp)not specified [RCV004399405]uncertain significance174218421642184216Humanname
405790154CV3266396single nucleotide variantNM_001524.1(HCRT):c.359C>A (p.Ala120Asp)not specified [RCV004399406]uncertain significance174218419142184191Humanname
405790157CV3266397single nucleotide variantNM_001524.1(HCRT):c.376G>A (p.Gly126Arg)not specified [RCV004399407]uncertain significance174218417442184174Humanname
405790169CV3266401single nucleotide variantNM_001525.3(HCRTR1):c.47G>T (p.Gly16Val)not specified [RCV004399411]uncertain significance13161923931619239Humanname
405790177CV3266404single nucleotide variantNM_001525.3(HCRTR1):c.82G>A (p.Glu28Lys)not specified [RCV004399414]uncertain significance13161927431619274Humanname
598266194CV3971619single nucleotide variantNM_001524.1(HCRT):c.329G>C (p.Cys110Ser)not specified [RCV005349221]uncertain significance174218422142184221Humanname
156385103CV2371697single nucleotide variantNM_001525.3(HCRTR1):c.194C>T (p.Thr65Met)not specified [RCV004218981]uncertain significance13161938631619386Humanname
156093771CV2389740single nucleotide variantNM_001525.3(HCRTR1):c.218G>A (p.Arg73Gln)not specified [RCV004243786]uncertain significance13161955031619550Humanname
401727824CV2678488single nucleotide variantNM_001525.3(HCRTR1):c.211G>A (p.Val71Met)not specified [RCV004292504]uncertain significance13161954331619543Humanname
401874854CV2756095single nucleotide variantNM_001525.3(HCRTR1):c.260A>G (p.Asn87Ser)not specified [RCV004338210]uncertain significance13161959231619592Humanname
405790166CV3266400single nucleotide variantNM_001525.3(HCRTR1):c.230T>C (p.Met77Thr)not specified [RCV004399410]uncertain significance13161956231619562Humanname
597781546CV3679041single nucleotide variantNM_001525.3(HCRTR1):c.226C>T (p.His76Tyr)not specified [RCV004930924]uncertain significance13161955831619558Humanname
598246728CV3971620single nucleotide variantNM_001525.3(HCRTR1):c.109C>T (p.Arg37Cys)not specified [RCV005345201]uncertain significance13161930131619301Humanname
156262918CV2201124single nucleotide variantNM_001525.3(HCRTR1):c.649A>G (p.Ser217Gly)not specified [RCV004077286]uncertain significance13162150331621503Humanname
156263015CV2201132single nucleotide variantNM_001525.3(HCRTR1):c.673C>G (p.Leu225Val)not specified [RCV004077294]uncertain significance13162152731621527Humanname
156399275CV2205023single nucleotide variantNM_001525.3(HCRTR1):c.767G>A (p.Arg256Gln)not specified [RCV004077639]uncertain significance13162355131623551Humanname
155967363CV2280365single nucleotide variantNM_001525.3(HCRTR1):c.418A>G (p.Ile140Val)not specified [RCV004140553]uncertain significance13162088231620882Humanname
156008192CV2288509single nucleotide variantNM_001525.3(HCRTR1):c.823G>A (p.Glu275Lys)not specified [RCV004152043]uncertain significance13162360731623607Humanname
155984785CV2344457single nucleotide variantNM_001525.3(HCRTR1):c.946G>A (p.Val316Ile)not specified [RCV004195201]uncertain significance13162373031623730Humanname
156119601CV2354087single nucleotide variantNM_001525.3(HCRTR1):c.319G>A (p.Asp107Asn)not specified [RCV004206526]uncertain significance13161965131619651Humanname
156148656CV2377344single nucleotide variantNM_001525.3(HCRTR1):c.766C>T (p.Arg256Trp)not specified [RCV004225525]uncertain significance13162355031623550Humanname
156071387CV2381384single nucleotide variantNM_001525.3(HCRTR1):c.982C>T (p.Arg328Cys)not specified [RCV004227434]uncertain significance13162501331625013Humanname
156134288CV2383124single nucleotide variantNM_001525.3(HCRTR1):c.983G>A (p.Arg328His)not specified [RCV004219739]uncertain significance13162501431625014Humanname
329361018CV2436593single nucleotide variantNM_001525.3(HCRTR1):c.478C>T (p.Arg160Trp)not specified [RCV004257975]uncertain significance13162094231620942Humanname
401746372CV2678825single nucleotide variantNM_001525.3(HCRTR1):c.538G>A (p.Ala180Thr)not specified [RCV004292806]uncertain significance13162100231621002Humanname
401745139CV2693189single nucleotide variantNM_001525.3(HCRTR1):c.959T>C (p.Leu320Pro)not specified [RCV004293119]uncertain significance13162374331623743Humanname
401873067CV2776421single nucleotide variantNM_001525.3(HCRTR1):c.898C>A (p.Leu300Met)not specified [RCV004355543]uncertain significance13162368231623682Humanname
401892444CV2781960single nucleotide variantNM_001525.3(HCRTR1):c.343G>A (p.Gly115Ser)not specified [RCV004357191]uncertain significance13161967531619675Humanname
405790172CV3266402single nucleotide variantNM_001525.3(HCRTR1):c.584G>A (p.Arg195His)not specified [RCV004399412]uncertain significance13162104831621048Humanname
405790175CV3266403single nucleotide variantNM_001525.3(HCRTR1):c.742C>A (p.Pro248Thr)not specified [RCV004399413]uncertain significance13162352631623526Humanname
405790180CV3266405single nucleotide variantNM_001525.3(HCRTR1):c.968T>C (p.Val323Ala)not specified [RCV004399415]uncertain significance13162499931624999Humanname
407514404CV3440209single nucleotide variantNM_001525.3(HCRTR1):c.734G>A (p.Arg245His)not specified [RCV004627595]uncertain significance13162158831621588Humanname
407514406CV3440210single nucleotide variantNM_001525.3(HCRTR1):c.614G>A (p.Arg205His)not specified [RCV004627596]likely benign13162107831621078Humanname
597710207CV3679038single nucleotide variantNM_001525.3(HCRTR1):c.484C>T (p.Arg162Cys)not specified [RCV004917431]uncertain significance13162094831620948Humanname
597781543CV3679039single nucleotide variantNM_001525.3(HCRTR1):c.485G>A (p.Arg162His)not specified [RCV004930923]uncertain significance13162094931620949Humanname
597710215CV3679040single nucleotide variantNM_001525.3(HCRTR1):c.668C>T (p.Thr223Ile)not specified [RCV004917432]uncertain significance13162152231621522Humanname
597710224CV3679042single nucleotide variantNM_001525.3(HCRTR1):c.301C>T (p.Pro101Ser)not specified [RCV004917433]uncertain significance13161963331619633Humanname
15132613CV707342single nucleotide variantNM_001525.3(HCRTR1):c.836G>A (p.Arg279Gln)not provided [RCV000964805]benign13162362031623620Humanname
156065835CV2348915single nucleotide variantNM_001525.3(HCRTR1):c.1084A>G (p.Ser362Gly)not specified [RCV004203350]uncertain significance13162511531625115Humanname
156199599CV2392280single nucleotide variantNM_001525.3(HCRTR1):c.1097G>A (p.Arg366Gln)not specified [RCV004243885]uncertain significance13162679931626799Humanname
329376638CV2438292single nucleotide variantNM_001525.3(HCRTR1):c.1105T>C (p.Phe369Leu)not specified [RCV004257048]uncertain significance13162680731626807Humanname
401754573CV2682231single nucleotide variantNM_001384272.1(HCRTR2):c.41A>G (p.Asn14Ser)not specified [RCV004297191]uncertain significance65517462855174628Humanname
401890365CV2755827single nucleotide variantNM_001525.3(HCRTR1):c.1258G>A (p.Val420Ile)not specified [RCV004342197]uncertain significance13162696031626960Humanname
405790163CV3266399single nucleotide variantNM_001525.3(HCRTR1):c.1124G>A (p.Cys375Tyr)not specified [RCV004399409]uncertain significance13162682631626826Humanname
155967174CV2280268single nucleotide variantNM_001384272.1(HCRTR2):c.205C>T (p.Leu69Phe)not specified [RCV004140472]uncertain significance65517479255174792Humanname
329386731CV2428405single nucleotide variantNM_001384272.1(HCRTR2):c.163T>C (p.Trp55Arg)not specified [RCV004253209]uncertain significance65517475055174750Humanname
401737355CV2679291single nucleotide variantNM_001384272.1(HCRTR2):c.158A>G (p.Tyr53Cys)not specified [RCV004285835]uncertain significance65517474555174745Humanname
405790189CV3266408single nucleotide variantNM_001384272.1(HCRTR2):c.179G>T (p.Gly60Val)not specified [RCV004399418]uncertain significance65517476655174766Humanname
405790193CV3266409single nucleotide variantNM_001384272.1(HCRTR2):c.295G>T (p.Ala99Ser)not specified [RCV004399419]uncertain significance65524871055248710Humanname
597710233CV3679045single nucleotide variantNM_001384272.1(HCRTR2):c.179G>C (p.Gly60Ala)not specified [RCV004917434]uncertain significance65517476655174766Humanname
598246734CV3971624single nucleotide variantNM_001384272.1(HCRTR2):c.257G>A (p.Arg86Lys)not specified [RCV005345202]uncertain significance65524867255248672Humanname
598266209CV3971625single nucleotide variantNM_001384272.1(HCRTR2):c.208A>C (p.Ile70Leu)not specified [RCV005349225]uncertain significance65517479555174795Humanname
15162287CV735711single nucleotide variantNM_001384272.1(HCRTR2):c.1182C>T (p.Leu394=)not provided [RCV000903522]benign65528230155282301Humanname
156400755CV2217129single nucleotide variantNM_001384272.1(HCRTR2):c.547A>G (p.Ile183Val)not specified [RCV004085801]uncertain significance65525528055255280Humanname
155987110CV2234062single nucleotide variantNM_001384272.1(HCRTR2):c.743G>T (p.Arg248Leu)not specified [RCV004106168]uncertain significance65526380355263803Humanname
155973358CV2320994single nucleotide variantNM_001384272.1(HCRTR2):c.827G>A (p.Arg276Gln)not specified [RCV004172790]uncertain significance65527744455277444Humanname
156343186CV2364075single nucleotide variantNM_001384272.1(HCRTR2):c.509G>A (p.Arg170His)not specified [RCV004221459]uncertain significance65525524255255242Humanname
155990006CV2371996single nucleotide variantNM_001384272.1(HCRTR2):c.676T>G (p.Cys226Gly)not specified [RCV004221671]uncertain significance65526373655263736Humanname
156261859CV2376839single nucleotide variantNM_001384272.1(HCRTR2):c.964A>G (p.Ile322Val)not specified [RCV004229542]uncertain significance65527758155277581Humanname
329366921CV2441978single nucleotide variantNM_001384272.1(HCRTR2):c.778T>A (p.Ser260Thr)not specified [RCV004262151]uncertain significance65527739555277395Humanname
329387652CV2446747single nucleotide variantNM_001384272.1(HCRTR2):c.314T>C (p.Ile105Thr)not specified [RCV004257620]uncertain significance65524872955248729Humanname
329389302CV2467255single nucleotide variantNM_001384272.1(HCRTR2):c.602C>G (p.Ala201Gly)not specified [RCV004285064]uncertain significance65525533555255335Humanname
401891115CV2769045single nucleotide variantNM_001384272.1(HCRTR2):c.736A>G (p.Ile246Val)not specified [RCV004348913]uncertain significance65526379655263796Humanname
401865153CV2791536single nucleotide variantNM_001384272.1(HCRTR2):c.637C>T (p.Arg213Cys)not specified [RCV004358913]uncertain significance65525537055255370Humanname
597781554CV3679046single nucleotide variantNM_001384272.1(HCRTR2):c.775T>A (p.Ser259Thr)not specified [RCV004930926]uncertain significance65527739255277392Humanname
597710240CV3679047single nucleotide variantNM_001384272.1(HCRTR2):c.830G>T (p.Gly277Val)not specified [RCV004917435]uncertain significance65527744755277447Humanname
598266217CV3971627single nucleotide variantNM_001384272.1(HCRTR2):c.826C>G (p.Arg276Gly)not specified [RCV005349227]uncertain significance65527744355277443Humanname
155928292CV2363251single nucleotide variantNM_001384272.1(HCRTR2):c.1156G>C (p.Val386Leu)not specified [RCV004213810]uncertain significance65528227555282275Humanname
401759252CV2708544single nucleotide variantNM_001384272.1(HCRTR2):c.1173G>C (p.Glu391Asp)not specified [RCV004307540]uncertain significance65528229255282292Humanname
401887542CV2773495single nucleotide variantNM_001384272.1(HCRTR2):c.1228C>G (p.Gln410Glu)not specified [RCV004354125]uncertain significance65528234755282347Humanname
401891097CV2778642single nucleotide variantNM_001384272.1(HCRTR2):c.1220T>G (p.Leu407Trp)not specified [RCV004344286]uncertain significance65528233955282339Humanname
405790183CV3266406single nucleotide variantNM_001384272.1(HCRTR2):c.1234A>G (p.Ser412Gly)not specified [RCV004399416]uncertain significance65528235355282353Humanname
405790187CV3266407single nucleotide variantNM_001384272.1(HCRTR2):c.1307A>G (p.Asn436Ser)not specified [RCV004399417]uncertain significance65528242655282426Humanname
597781550CV3679044single nucleotide variantNM_001384272.1(HCRTR2):c.1184C>T (p.Thr395Ile)not specified [RCV004930925]uncertain significance65528230355282303Humanname
598266198CV3971621single nucleotide variantNM_001384272.1(HCRTR2):c.1178G>A (p.Arg393Gln)not specified [RCV005349222]likely benign65528229755282297Humanname
598266202CV3971622single nucleotide variantNM_001384272.1(HCRTR2):c.1172A>T (p.Glu391Val)not specified [RCV005349223]uncertain significance65528229155282291Humanname
598266206CV3971623single nucleotide variantNM_001384272.1(HCRTR2):c.1103G>A (p.Ser368Asn)not specified [RCV005349224]uncertain significance65528044255280442Humanname
598266214CV3971626single nucleotide variantNM_001384272.1(HCRTR2):c.1151T>A (p.Leu384His)not specified [RCV005349226]uncertain significance65528227055282270Humanname